Variant (rsID / SNP)
rs587777798
rs587777798 is a genetic variant (SNP, identifier in the dbSNP catalogue) that the reference table assigns to CRPPA. Location: chromosome 7, position 16,298,018. Clinical significance in the table: Pathogenic/Likely pathogenic.
Reference-table entries
CRPPAPathogenic
- Clinical significance (as recorded)
- Pathogenic/Likely pathogenic
- Variant type
- Microsatellite
- Chromosome / position
- 7:16298018
- Cytoband
- 7p21.2
- HGVS
- NM_001101426.4(CRPPA):c.1105GTT[3] (p.Val372del)
Associated conditions / phenotypes
Autosomal recessive limb-girdle muscular dystrophy type 2U|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 8|Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 7|Autosomal recessive limb-girdle muscular dystrophy type 2U
Public references
Classifications are reproduced unchanged from the reference table. For education only; not a substitute for medical or genetic counselling.